Conditions / Syndrome
Williams-Beuren syndrome
info · Syndrome · ICD-10: Q93.82
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion o
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
Signs and symptoms
- Anxiety
- Incoordination
- Supravalvular aortic stenosis
- Diabetes mellitus
- Failure to thrive in infancy
- Strabismus
- Short stature
- Short nose
- Gastroesophageal reflux
- Gait imbalance
Also known as: Fanconi Schlesinger syndrome; WBS